Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q976delFs

TET2

2,192 papers

RefSeq Summary

The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defect...

Pfam Domains

Tet_JBPaa 1290–1905UCSCOxygenase domain of the 2OGFeDO superfamily

Gene Aliases

HGNC Name

tet methylcytosine dioxygenase 2

HGNC Previous Symbol

KIAA1546

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001127208.3
p.Q976delFs
c.2927delA
Surrounding Variants
3 papers
NM_001127208.3
p.Q976fs
c.2926_2927fs
7 papers
NM_001127208.3
p.Q976*
c.2926C>T
1 paper
NM_001127208.3
p.Q976insFs
c.2928dupG
1 paper
NM_001127208.3
p.S975R
c.2925T>A
1 paper
NM_001127208.3
p.S975R
c.2925T>G
2 papers
NM_001127208.3
p.M977fs
c.2929_2930fs
1 paper
NM_001127208.3
p.M977insFs
c.2930_2931insTT
1 paper
NM_001127208.3
p.S975R
c.2923A>C
1 paper
NM_001127208.3
p.S975_Q976delFs
c.2925_2928del4
1 paper
NM_001127208.3
p.H974N
c.2920C>A
1 paper
NM_001127208.3
p.H974fs
c.2920_2921fs
1 paper
NM_001127208.3
p.H974Y
c.2920C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."